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Significados de peroxisome biogenesis disorders-zellweger spectrum disorders em inglês

catalão
trastorn de l'espectre de zellweger
espanhol
trastorno del espectro de zellweger

Group of rare autosomal recessive genetic disorders.

      Termos relacionados
      trastorn de l'espectre de zellweger
      Sinônimos
      Examples for "zss"
      Examples for "zss"
      1
      It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients.
      Pubmed
      2
      The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites.
      Pubmed
      3
      In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis.
      Pubmed
      4
      Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies.
      Pubmed
      5
      Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival.
      Pubmed
      1
      This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.
      Pubmed
      Translations for peroxisome biogenesis disorders-zellweger spectrum disorders